The long range goal of the Mouse Mutant Gene Resource (MMGR) at The Jackson Laboratory is to provide a continuing source of new spontaneous mutations for biological and biomedical research. Spontaneous mutations in the mouse are the primary source of models for human conditions for which the mutated gene has not been cloned. The specific objectives of the MMGR program are to (1) identify new mutations in the mouse; (2) characterize the new mutants genetically, phenotypically, and pathologically; (3) establish the new mutations in strains suitable for further analysis by us and others; (4) preserve them as frozen embryos to assure their continued availability and as DNA for future molecular analysis, and (5) provide mutants and controls to other investigators. The new mutations will be identified from among phenotypic deviants appearing in The Jackson Laboratory's breeding colonies. They will be characterized genetically by determining the mode of inheritance, testing for allelism with any already known mutations that produce similar phenotypes, and determining the chromosomal location. The new mutants will be characterized phenotypically by observing their fertility growth, viability, life span, and behavior and by defining their anatomical, histopathological, and physiological abnormalities. We test potential candidate genes for recombination with the mutant gene. For selected mutants, we do further molecular analysis to identify the mutated gene. We also do more in depth phenotypic and pathologic analysis on mutants for which a member of our group or a collaborator has specific expertise. New mutants with potential for biomedical research will be maintained, preserved as frozen embryos and DNA, described in the open literature and made available to other investigators at The Jackson Laboratory and in the world-wide scientific community.
| Davisson, Muriel T; Cook, Susan A; Akeson, Ellen C et al. (2015) Kidney adysplasia and variable hydronephrosis, a new mutation affecting the odd-skipped related 1 gene in the mouse, causes variable defects in kidney development and hydronephrosis. Am J Physiol Renal Physiol 308:F1335-42 |
| Sakami, Sanae; Kolesnikov, Alexander V; Kefalov, Vladimir J et al. (2014) P23H opsin knock-in mice reveal a novel step in retinal rod disc morphogenesis. Hum Mol Genet 23:1723-41 |
| Li, Qiaoli; Pratt, C Herbert; Dionne, Louise A et al. (2014) Spontaneous asj-2J mutant mouse as a model for generalized arterial calcification of infancy: a large deletion/insertion mutation in the Enpp1 gene. PLoS One 9:e113542 |
| Korstanje, Ron; Caputo, Christina R; Doty, Rosalinda A et al. (2014) A mouse Col4a4 mutation causing Alport glomerulosclerosis with abnormal collagen ?3?4?5(IV) trimers. Kidney Int 85:1461-8 |
| Potter, Gregory B; Santos, Marta; Davisson, Muriel T et al. (2013) Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease. Hum Mol Genet 22:3397-414 |
| Nilsson, Ida A K; Lindfors, Charlotte; Schalling, Martin et al. (2013) Anorexia and hypothalamic degeneration. Vitam Horm 92:27-60 |
| Schramm, R Dee; Li, Shuai; Harris, Belinda S et al. (2012) A novel mouse Dscam mutation inhibits localization and shedding of DSCAM. PLoS One 7:e52652 |
| Davisson, Muriel T; Bergstrom, David E; Reinholdt, Laura G et al. (2012) Discovery Genetics - The History and Future of Spontaneous Mutation Research. Curr Protoc Mouse Biol 2:103-118 |
| Fairfield, Heather; Gilbert, Griffith J; Barter, Mary et al. (2011) Mutation discovery in mice by whole exome sequencing. Genome Biol 12:R86 |
| Davisson, Muriel T; Bronson, Roderick T; Tadenev, Abigail L D et al. (2011) A spontaneous mutation in contactin 1 in the mouse. PLoS One 6:e29538 |
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